A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997663



Internal ID18810513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86899127..87752799hg38UCSC Ensembl
Innerchr2:87126250..88052318hg19UCSC Ensembl
Innerchr2:86979761..87833433hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38853673
hg19926069
hg18853673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3887n100
Supporting Variantsnssv3582174
Samples
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997663
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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